We are pursuing the first therapy for Glut1 deficiency.
Glut1 deficiency syndrome is caused by mutations of the SLC2A1 gene which results in a defect in the transporter responsible for shuttling glucose from the blood stream to the brain , it has an incidence of approximately 1 in 90,000 births.
Typical symptoms occur soon after birth with seizures refractory to anticonvulsive drugs, developmental delay, microcephaly (small head), hypotonia and ataxia. Developmental milestones are usually delayed.
The ketogenic diet is thought to confer some improvement on seizures and movement symptoms.